Canonical Allele Identifier: CA374964848

Gene: FPGS

Linked Data

• dbSNP Id: rs1226717291
• gnomAD v2: 9-130575600-C-T
• gnomAD v3: 9-127813321-C-T
• gnomAD v4: 9-127813321-C-T
• MyVariant Identifiers: chr9:g.130575600C>T (hg19) ; chr9:g.127813321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813321C>T , CM000671.2:g.127813321C>T	GRCh38
NC_000009.11:g.130575600C>T , CM000671.1:g.130575600C>T	GRCh37
NC_000009.10:g.129615421C>T	NCBI36
NG_009551.1:g.46448G>A , LRG_589:g.46448G>A
NG_023245.1:g.15447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1481C>T MANE Select	ENSP00000362344.2:p.Pro494Leu
ENST00000373225.7:c.1331C>T	ENSP00000362322.3:p.Pro444Leu
ENST00000373228.5:c.*138C>T	ENSP00000362325.1:n.*138C>T
ENST00000373247.6:c.1481C>T	ENSP00000362344.2:p.Pro494Leu
ENST00000393706.6:c.1403C>T	ENSP00000377309.2:p.Pro468Leu
ENST00000460181.5:n.1469C>T
ENST00000467826.5:n.707C>T
ENST00000475270.1:n.307C>T
ENST00000630236.2:c.*205C>T	ENSP00000486766.1:n.*205C>T
NM_001018078.2:c.1331C>T	NP_001018088.1:p.Pro444Leu
NM_001288803.1:c.1403C>T	NP_001275732.1:p.Pro468Leu
NM_004957.5:c.1481C>T	NP_004948.4:p.Pro494Leu
NR_110170.1:n.1529C>T
XM_005251864.2:c.1481C>T	XP_005251921.1:p.Pro494Leu
XM_011518437.1:c.1331C>T	XP_011516739.1:p.Pro444Leu
XM_011518438.1:c.1331C>T	XP_011516740.1:p.Pro444Leu
XM_011518439.1:c.638C>T	XP_011516741.1:p.Pro213Leu
XR_242581.2:n.1378C>T
XR_242582.2:n.1378C>T
XM_005251864.4:c.1481C>T	XP_005251921.1:p.Pro494Leu
XM_011518439.2:c.638C>T	XP_011516741.1:p.Pro213Leu
XM_017014565.2:c.1331C>T	XP_016870054.1:p.Pro444Leu
XM_017014566.1:c.638C>T	XP_016870055.1:p.Pro213Leu
XR_242581.4:n.1376C>T
XR_242582.4:n.1376C>T
NM_004957.6:c.1481C>T MANE Select	NP_004948.4:p.Pro494Leu